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Split hand and foot malformation: ultrasound detection in the first trimester
Author(s) -
Lapaire O.,
Schiesser M.,
Peukert R.,
Holzgreve W.,
Tercanli S.
Publication year - 2002
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1046/j.1469-0705.2002.00827.x
Subject(s) - medicine , foot (prosody) , ultrasound , 3d ultrasound , pathological , prenatal diagnosis , first trimester , differential diagnosis , gestation , variable expression , prenatal ultrasound , fetus , pregnancy , obstetrics , radiology , pathology , genetics , philosophy , linguistics , biology , gene
The split hand split foot malformation is a rare disorder inherited in an autosomal dominant pattern with variable expression. In our case it was detected early by ultrasound in the twelfth week of gestation. To our knowledge, this is the earliest finding by ultrasound of this malformation. The sonographic findings were bilateral split hands and split foot. No other associated malformation was observed. The pathological findings were consistent with the diagnosis of split hand split foot malformation. Prenatal diagnosis, the genetic background, and the differential diagnosis are discussed. Copyright © 2002 International Society of Ultrasound in Obstetrics and Gynecology